Incidental Mutation 'R7531:Ror1'
| ID |
583302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
045603-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100298388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 587
(L587Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039630
AA Change: L587Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: L587Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
IGc2
|
70 |
138 |
8.37e-15 |
SMART |
|
Pfam:Fz
|
170 |
290 |
4.9e-13 |
PFAM |
|
KR
|
311 |
393 |
7.57e-47 |
SMART |
|
transmembrane domain
|
404 |
426 |
N/A |
INTRINSIC |
|
TyrKc
|
473 |
746 |
2.46e-137 |
SMART |
|
low complexity region
|
753 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
864 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8491 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: This gene encodes a receptor tyrosine kinase that has been implicated in nervous system development, specifically in the maintenance of neural progenitor cell fate, neurite extension and synapse formation. The encoded protein, likely a pseudokinase that lacks catalytic activity, may also regulate adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for some disruptions in this gene die within the first day after birth from respiratory defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,286,332 (GRCm39) |
T2501S |
probably damaging |
Het |
| Abcg3 |
A |
G |
5: 105,125,507 (GRCm39) |
Y59H |
probably benign |
Het |
| Acsf2 |
G |
T |
11: 94,464,057 (GRCm39) |
|
probably null |
Het |
| Adam25 |
T |
A |
8: 41,206,914 (GRCm39) |
I60K |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,254,261 (GRCm39) |
V1729E |
probably damaging |
Het |
| Aldh9a1 |
G |
A |
1: 167,177,895 (GRCm39) |
V31I |
probably benign |
Het |
| Aqp5 |
T |
C |
15: 99,489,180 (GRCm39) |
F10L |
possibly damaging |
Het |
| Arfgap2 |
T |
A |
2: 91,104,089 (GRCm39) |
|
probably null |
Het |
| Asb7 |
T |
C |
7: 66,328,884 (GRCm39) |
H52R |
probably damaging |
Het |
| Aspa |
G |
A |
11: 73,204,351 (GRCm39) |
Q206* |
probably null |
Het |
| Bpgm |
A |
G |
6: 34,481,223 (GRCm39) |
I207V |
possibly damaging |
Het |
| Brinp2 |
A |
G |
1: 158,094,142 (GRCm39) |
S187P |
possibly damaging |
Het |
| Clec4e |
A |
G |
6: 123,262,533 (GRCm39) |
F128S |
probably benign |
Het |
| Crisp3 |
A |
G |
17: 40,545,629 (GRCm39) |
F82L |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,243,350 (GRCm39) |
L497P |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,617,832 (GRCm39) |
V48A |
probably benign |
Het |
| Ddx11 |
A |
T |
17: 66,445,214 (GRCm39) |
T379S |
probably benign |
Het |
| Depdc1a |
A |
C |
3: 159,228,276 (GRCm39) |
T343P |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,392,389 (GRCm39) |
I546V |
probably damaging |
Het |
| Fam114a2 |
A |
G |
11: 57,404,542 (GRCm39) |
V74A |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,839,656 (GRCm39) |
F490L |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,108,177 (GRCm39) |
R68S |
probably damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,764,950 (GRCm39) |
I154V |
possibly damaging |
Het |
| Gm45844 |
T |
C |
7: 7,243,185 (GRCm39) |
T22A |
probably benign |
Het |
| Gramd2a |
A |
T |
9: 59,617,193 (GRCm39) |
I83F |
probably damaging |
Het |
| Hcn4 |
A |
G |
9: 58,767,420 (GRCm39) |
T994A |
unknown |
Het |
| Hectd1 |
C |
T |
12: 51,853,150 (GRCm39) |
V124I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,562,531 (GRCm39) |
D2342E |
probably benign |
Het |
| Hyal6 |
A |
T |
6: 24,740,786 (GRCm39) |
H313L |
possibly damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,523 (GRCm39) |
|
probably benign |
Het |
| Keap1 |
A |
G |
9: 21,148,623 (GRCm39) |
I128T |
probably benign |
Het |
| Kit |
T |
C |
5: 75,767,700 (GRCm39) |
S28P |
probably damaging |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,942 (GRCm39) |
C260S |
unknown |
Het |
| Lepr |
T |
A |
4: 101,609,372 (GRCm39) |
W320R |
probably damaging |
Het |
| Lmod3 |
A |
T |
6: 97,225,403 (GRCm39) |
N139K |
probably benign |
Het |
| Marchf1 |
C |
G |
8: 66,838,989 (GRCm39) |
S10R |
probably benign |
Het |
| Naa35 |
A |
T |
13: 59,765,755 (GRCm39) |
K380* |
probably null |
Het |
| Npy1r |
C |
A |
8: 67,157,546 (GRCm39) |
F285L |
probably damaging |
Het |
| Nr1h3 |
C |
T |
2: 91,014,739 (GRCm39) |
R427H |
probably damaging |
Het |
| Or5p79 |
T |
A |
7: 108,221,269 (GRCm39) |
N83K |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,582,008 (GRCm39) |
|
probably null |
Het |
| Pcmt1 |
A |
G |
10: 7,556,369 (GRCm39) |
|
probably null |
Het |
| Prg4 |
T |
G |
1: 150,330,786 (GRCm39) |
E629A |
unknown |
Het |
| Rin2 |
T |
G |
2: 145,700,419 (GRCm39) |
S199A |
probably benign |
Het |
| Rsl1 |
T |
A |
13: 67,324,566 (GRCm39) |
C31S |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,239,523 (GRCm39) |
|
probably null |
Het |
| Sema3a |
T |
C |
5: 13,615,805 (GRCm39) |
Y410H |
probably damaging |
Het |
| Smpd5 |
T |
C |
15: 76,180,539 (GRCm39) |
V447A |
probably benign |
Het |
| Tax1bp1 |
A |
T |
6: 52,723,682 (GRCm39) |
D524V |
probably benign |
Het |
| Tesc |
A |
T |
5: 118,197,523 (GRCm39) |
Y179F |
probably damaging |
Het |
| Tm9sf2 |
T |
C |
14: 122,379,824 (GRCm39) |
S292P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,819,838 (GRCm39) |
D543G |
probably damaging |
Het |
| Usp4 |
T |
A |
9: 108,249,879 (GRCm39) |
V469E |
probably damaging |
Het |
| Vmn1r10 |
T |
A |
6: 57,090,924 (GRCm39) |
I172N |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,659,473 (GRCm39) |
L146S |
probably damaging |
Het |
|
| Other mutations in Ror1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Ror1
|
APN |
4 |
100,190,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00939:Ror1
|
APN |
4 |
100,298,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01408:Ror1
|
APN |
4 |
100,190,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01678:Ror1
|
APN |
4 |
100,283,165 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01700:Ror1
|
APN |
4 |
100,266,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01985:Ror1
|
APN |
4 |
100,283,161 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02002:Ror1
|
APN |
4 |
100,298,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02634:Ror1
|
APN |
4 |
100,283,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02995:Ror1
|
APN |
4 |
100,191,722 (GRCm39) |
splice site |
probably benign |
|
|
IGL03033:Ror1
|
APN |
4 |
100,269,092 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03207:Ror1
|
APN |
4 |
100,265,142 (GRCm39) |
splice site |
probably null |
|
|
F5770:Ror1
|
UTSW |
4 |
100,298,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0256:Ror1
|
UTSW |
4 |
100,266,942 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0417:Ror1
|
UTSW |
4 |
100,269,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0525:Ror1
|
UTSW |
4 |
100,298,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1034:Ror1
|
UTSW |
4 |
100,190,817 (GRCm39) |
nonsense |
probably null |
|
|
R1278:Ror1
|
UTSW |
4 |
100,299,075 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1368:Ror1
|
UTSW |
4 |
100,298,334 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1437:Ror1
|
UTSW |
4 |
100,269,306 (GRCm39) |
missense |
probably benign |
|
|
R1441:Ror1
|
UTSW |
4 |
100,298,180 (GRCm39) |
missense |
probably benign |
|
|
R1544:Ror1
|
UTSW |
4 |
100,299,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Ror1
|
UTSW |
4 |
100,160,135 (GRCm39) |
missense |
probably benign |
|
|
R1857:Ror1
|
UTSW |
4 |
100,298,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Ror1
|
UTSW |
4 |
100,265,038 (GRCm39) |
nonsense |
probably null |
|
|
R2051:Ror1
|
UTSW |
4 |
100,265,065 (GRCm39) |
nonsense |
probably null |
|
|
R2127:Ror1
|
UTSW |
4 |
100,299,290 (GRCm39) |
missense |
probably benign |
|
|
R2132:Ror1
|
UTSW |
4 |
100,267,222 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2133:Ror1
|
UTSW |
4 |
100,267,222 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2176:Ror1
|
UTSW |
4 |
100,299,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2431:Ror1
|
UTSW |
4 |
100,298,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2896:Ror1
|
UTSW |
4 |
99,953,477 (GRCm39) |
missense |
unknown |
|
|
R3005:Ror1
|
UTSW |
4 |
100,298,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3780:Ror1
|
UTSW |
4 |
100,269,314 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3850:Ror1
|
UTSW |
4 |
100,299,357 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3861:Ror1
|
UTSW |
4 |
100,265,120 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4599:Ror1
|
UTSW |
4 |
100,265,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4863:Ror1
|
UTSW |
4 |
100,267,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4871:Ror1
|
UTSW |
4 |
100,283,195 (GRCm39) |
missense |
probably benign |
|
|
R4990:Ror1
|
UTSW |
4 |
100,299,161 (GRCm39) |
missense |
probably benign |
|
|
R5023:Ror1
|
UTSW |
4 |
100,283,129 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5028:Ror1
|
UTSW |
4 |
100,269,133 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5079:Ror1
|
UTSW |
4 |
100,298,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5294:Ror1
|
UTSW |
4 |
100,283,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5538:Ror1
|
UTSW |
4 |
100,298,208 (GRCm39) |
missense |
probably benign |
|
|
R6339:Ror1
|
UTSW |
4 |
100,269,128 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6491:Ror1
|
UTSW |
4 |
100,267,109 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6632:Ror1
|
UTSW |
4 |
100,299,303 (GRCm39) |
missense |
probably benign |
|
|
R6733:Ror1
|
UTSW |
4 |
100,283,252 (GRCm39) |
missense |
probably benign |
|
|
R7022:Ror1
|
UTSW |
4 |
100,265,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7054:Ror1
|
UTSW |
4 |
100,299,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7121:Ror1
|
UTSW |
4 |
100,160,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7350:Ror1
|
UTSW |
4 |
100,283,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7492:Ror1
|
UTSW |
4 |
100,298,256 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7502:Ror1
|
UTSW |
4 |
100,190,827 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7661:Ror1
|
UTSW |
4 |
100,298,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Ror1
|
UTSW |
4 |
100,298,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Ror1
|
UTSW |
4 |
100,298,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8366:Ror1
|
UTSW |
4 |
100,267,195 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8539:Ror1
|
UTSW |
4 |
100,299,084 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8757:Ror1
|
UTSW |
4 |
100,298,080 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8862:Ror1
|
UTSW |
4 |
100,191,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8913:Ror1
|
UTSW |
4 |
100,265,027 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9382:Ror1
|
UTSW |
4 |
100,191,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
V7580:Ror1
|
UTSW |
4 |
100,298,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7583:Ror1
|
UTSW |
4 |
100,298,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0020:Ror1
|
UTSW |
4 |
100,283,287 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Ror1
|
UTSW |
4 |
100,160,116 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGGAAGCCTCTCTCATGG -3'
(R):5'- GCAGTGAAGACTTACTCTGTACC -3'
Sequencing Primer
(F):5'- CTCTCATGGCTGAACTACACC -3'
(R):5'- CTCTGTACCCTATAGTAATCAGCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation